<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>2182-5173</journal-id>
<journal-title><![CDATA[Revista Portuguesa de Medicina Geral e Familiar]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Port Med Geral Fam]]></abbrev-journal-title>
<issn>2182-5173</issn>
<publisher>
<publisher-name><![CDATA[Associação Portuguesa de Medicina Geral e Familiar]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2182-51732024000100088</article-id>
<article-id pub-id-type="doi">10.32385/rpmgf.v40i1.13587</article-id>
<title-group>
<article-title xml:lang="pt"><![CDATA[Síndroma genético de Bardet-Biedl e o médico de família: relato de caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Bardet-Biedl genetic syndrome and the family physician: case report]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hamdjan]]></surname>
<given-names><![CDATA[Gloriana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gonçalves]]></surname>
<given-names><![CDATA[Vasco]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro de Saúde de Elvas USF Uadiana ]]></institution>
<addr-line><![CDATA[Elvas ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro de Saúde de Elvas USF Uadiana ]]></institution>
<addr-line><![CDATA[Elvas ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>28</day>
<month>02</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>28</day>
<month>02</month>
<year>2024</year>
</pub-date>
<volume>40</volume>
<numero>1</numero>
<fpage>88</fpage>
<lpage>91</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S2182-51732024000100088&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S2182-51732024000100088&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S2182-51732024000100088&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo  Introdução:  O síndroma de Bardet-Biedl (SBB) é uma doença multissistémica rara, de transmissão predominantemente autossómica recessiva, genética e clinicamente heterogénea. A sua prevalência na Europa varia entre 1:125.000 e 1:175.000, afetando de igual modo ambos os sexos. Este síndroma define-se por obesidade, polidactilia, anomalias genitourinárias, distrofia retiniana e dificuldades cognitivas, que se associam de forma variável e pode incluir um amplo espectro de outras manifestações menos prevalentes. O diagnóstico da SBB é clínico, sendo confirmado por análise molecular, o que permite o aconselhamento genético dos restantes membros da família e a realização do diagnóstico pré-natal. Atualmente não existe tratamento curativo, mas o diagnóstico precoce é importante para orientar o acompanhamento multidisciplinar. O médico de família, pela sua proximidade com o doente e seguimento longitudinal, poderá identificar sinais de alarme relativos ao diagnóstico e à identificação de complicações da doença, além de poder ajudar a mitigar impactos psicossociais deletérios.  Descrição do caso:  Utente do sexo masculino, quatro anos de idade, raça caucasiana, natural de Lisboa, primeiro filho de uma fratria de três. A gravidez foi vigiada pelo seu médico de família, tendo, por alterações na ecografia morfológica - rins poliquísticos e polidactilia - iniciado seguimento na consulta de genética médica, onde se estabeleceu o diagnóstico de SBB tipo 4. Nasceu por parto eutócico de uma gestação de termo sem outras intercorrências. Foi referenciado às consultas de pediatria, genética, nefrologia, oftalmologia, otorrinolaringologia, cirurgia pediátrica plástica e cardiologia pediátrica. Com cerca de um ano de idade foi-lhe diagnosticada miopia. Aos três anos foi submetido a desarticulação de dedos supranumerários. Presentemente mantém vigilância na consulta de saúde infantil da USF e acompanhamento nutricional, apresentando progressão estaturo-ponderal adequada.  Comentário:  O objetivo deste trabalho é relatar um caso de SBB e identificar o papel do médico de família na sinalização e acompanhamento da criança com doença genética rara.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction:  Bardet-Biedl syndrome (BBS) is a rare multisystem disorder, predominantly of autosomal recessive transmission, with genetic and clinical heterogeneity. Prevalence in Europe varies from 1:125,000 to 1:175,000, equally affecting both sexes. BBS is defined by a variable combination of obesity, polydactyly, genitourinary anomalies, retinal dystrophy, cognitive impairment, and other less prevalent manifestations. The diagnosis of BBS is clinical, confirmed by molecular analysis. This allows for genetic counseling of families and the possibility of prenatal diagnosis. Currently, there is no curative treatment for BBS, being early diagnosis is important to plan a multidisciplinary follow-up. Family physicians, owing to their closeness with the patient and longitudinal follow-up, may identify red flags leading both to early diagnosis and early detection of complications, and to detect and mitigate any psychosocial mishaps.  Case description:  Male, Caucasian, four years old, born in Lisbon, first of three children. The pregnancy was initially followed by the general practitioner. Due to changes in the routine morphological ultrasound - polycystic kidneys and polydactyly - a referral was made to a consultation of medical genetics, where the genetic study was carried out to establish the diagnosis of BBS type 4. He was born by eutocic delivery, at the end of a full-term gestation, without complications. He was referred to consultations in pediatrics, genetics, nephrology, ophthalmology, otorhinolaryngology, pediatric plastic surgery, and pediatric cardiology. At about one year of age, he was diagnosed with myopia. At the age of three, he underwent the first disarticulation of the supernumerary fingers and toes. The child keeps follow-up at the USF consultation and nutritional monitoring, so far showing adequate height-weight progression.  Comment:  The objective of this case report is to describe a case of BBS and to identify the role of the family physician in the referral and follow-up of a child with a rare genetic disorder.]]></p></abstract>
<kwd-group>
<kwd lng="pt"><![CDATA[Síndroma de Bardet-Biedl]]></kwd>
<kwd lng="pt"><![CDATA[Ciliopatia]]></kwd>
<kwd lng="pt"><![CDATA[Doença genética]]></kwd>
<kwd lng="pt"><![CDATA[Médico de família]]></kwd>
<kwd lng="en"><![CDATA[Bardet-Biedl syndrome]]></kwd>
<kwd lng="en"><![CDATA[Ciliopathy]]></kwd>
<kwd lng="en"><![CDATA[Genetic disorder]]></kwd>
<kwd lng="en"><![CDATA[Family physician]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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